Skip to main content
. 2018 Aug 6;9:1761. doi: 10.3389/fimmu.2018.01761

Table 1.

Patients’ mutations, clinical characteristics and immunological profile.

Patient Age (years) Sex Genetic defect Mutation CD3+ cells/μl (nv) (34) CD3+CD4+ cells/μl (nv) (34) CD3+CD8+ cells/μl (nv) (34) CD19+ cells/μl (nv) (34) CD16+CD56+ cells/μl (nv) (34) IgG g/l (nv) (35) IgA g/l (nv) (35) IgM g/l (nv) (35) Clinical manifestations Treatment
Pt. 1 15 F CD40 c. 408A>T EX5 skipb 2,000 (1,000–2,000) 1,507 (400–2,000) 356 (200–800) 438 (200–600) 302 (100–700) 1.80 (6.4–19) <0.06 (0.6–3) 0.80 (0.6–3)

  • Pneumocystis infection

  • Cryptosporidium infection

  • Recurrent respiratory infections

  • Liver insufficiency

  • Exitus

 IVIG, TMP–SMZ
Pt. 2 31 M AICDA c.441C>Ab; p.C147X; 6,267 (600–2,000) 908 (400–1,200) 4,092 (200–800) 136 (100–500) 348 (100–500) <0.35 (6.4–19) <0.06 (0.6–3) 43.90 (0.6–3)

  • Recurrent respiratory infections

  • Bronchiectasis

  • Splenomegaly

 SCIG
Pt. 3 3 F AICDA c.389A>Cb; p.H130P; 2,735 (1,200–4,000) 1,006 (600–2,200) 1,172 (400–1,400) 480 (300–1,500) 914 (100–800) <0.6 (4.6–17) <0.02 (0.3–1.7) 6.80 (0.6–2.6) Recurrent respiratory infections IVIG
Pt. 4 14 F AICDA c.70C>Tb p.R24W na na na na na na na na Recurrent respiratory infections na
Pt. 5 14/19a M CD40LG c.346+4G>C 2,264 (800–1,800) 1,485 (400–1,200) 636 (200–800) 813 (100–500) 177 (100–700) 0.18 (6.4–19) 0.02 (0.6–3) 1.56 (0.6–3) na na
Pt. 6 4 M CD40LG c.487G>T; p.V163F 3,490 (1,200–4,000) 2,825 (600–2,200) 537 (400–1,400) 1,056 (300–1,500) 251 (100–800) <0.6 (5.3–19.6) <0.02 (0.4–2.6) 2.60 (0.5–3) Recurrent respiratory infections IVIG, AZM
Pt. 7 3 M CD40LG p.T254P na na na na na na na na

  • Neutropenia

  • Recurrent skin infection (impetigo)

 na
Pt. 8 7 M CD40LG c.761C>T; p.T254M 4,275 (800–3,200) 3,198 (400–2,000) 844 (400–1,400) 791 (200–1,000) 192 (100–700) <0.45 (6.3–10) <0.04 (0.4–3) 3.75 (0.6–2.6)

  • Recurrent media otitis

  • Hematuria by Proteus mirabilis

 IVIG, TMP–SMZ
Pt. 9 30 M CD40LG p.C682T na Na na na na na na na

  • Neutropenia

  • Aphthous stomatitis Warts

 na
Pt. 10 2 M CD40LG c.585dupA; p.L195fs na na na na na 3.25 (4.6–17) <0.07 (0.17–1.8) 1.22 (0.6–2.6)

  • Candida esophagitis

  • Perianal abscess, ileocecal fistula, and multiple colic ulcers with perforation

 BMT

IVIG, intravenous immunoglobulin; TMP–SMZ, trimethoprim/sulfamethoxazole; SCIG, subcutaneous immunoglobulin; AZM, azithromycin; BMT, bone marrow transplantation; na, data not available; nv, normal values.

In bold the abnormal values.

aPt.5 was analyzed twice, as a pediatric patient (14 years old) and as an adult patient (19 years old).

bHomozygous mutation.